Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Orpha code: 1875OMIM code: 254000

Definition

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.

Disease data
Classification

Disease

Synonyms
Bassoe syndrome
Zespół Bassoe
ORPHA code
1875
OMIM code
254000
ICD10 code
G71.0
ICD11 code
8C70.6

No additional description.

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